Term Name: mitochondrial complex IV deficiency nuclear type 4
Synonyms: MC4DN4
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.
Ontology: Human Disease [DOID:0070493]   ( DOID:0070493 )

Relationships
is a type of: autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy